ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.19-2A>G

dbSNP: rs796053272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189392 SCV000243030 pathogenic not provided 2024-08-22 criteria provided, single submitter clinical testing De novo variant in a patient with microcephaly, agenesis of the corpus callosum, cerebellar hypoplasia, West syndrome, and normal CSF glucose in published literature (PMID: 25108116); Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25108116, 31216405)
Baylor Genetics RCV000850603 SCV000992834 pathogenic Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2017-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445678 SCV004173983 pathogenic Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing

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